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Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
J Inherit Metab Dis. 2022 Jul;45(4):848-861. doi: 10.1002/jimd.12504. Epub 2022 May 9.
J Inherit Metab Dis. 2022.
PMID: 35460084
Free article.
Treatment of homozygous protein C deficiency with subcutaneous protein C concentrate.
Minford AM, Parapia LA, Stainforth C, Lee D.
Minford AM, et al. Among authors: stainforth c.
Br J Haematol. 1996 Apr;93(1):215-6. doi: 10.1046/j.1365-2141.1996.4691021.x.
Br J Haematol. 1996.
PMID: 8611462
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Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Kožich V, Sokolová J, Morris AAM, Pavlíková M, Gleich F, Kölker S, Krijt J, Dionisi-Vici C, Baumgartner MR, Blom HJ, Huemer M; E-HOD consortium.
Kožich V, et al.
J Inherit Metab Dis. 2021 May;44(3):677-692. doi: 10.1002/jimd.12338. Epub 2020 Dec 28.
J Inherit Metab Dis. 2021.
PMID: 33295057
Free PMC article.
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Delayed diagnosis of phenylketonuria - a case report of two siblings.
Narayanan D, Barski R, Henderson MJ, Luvai A, Chandrajay D, Stainforth C, Bradley J, Rogozinski H, Sharma R.
Narayanan D, et al. Among authors: stainforth c.
Ann Clin Biochem. 2014 May;51(Pt 3):406-8. doi: 10.1177/0004563213503818. Epub 2013 Oct 4.
Ann Clin Biochem. 2014.
PMID: 24097808
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